Træk
Loss of developmental milestones
Klinisk navn: Developmental regression
Loss of developmental skills, as manifested by loss of developmental milestones.
Resumé
- Også kaldet
- Mental deterioration in childhood, Loss of acquired milestones, Loss of milestones, Neurodevelopmental regression, Psychomotor regression, Psychomotor regression beginning in infancy, Psychomotor regression in infants, Psychomotor regression, progressive
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Loss of developmental milestones, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test447 gener knyttet til Loss of developmental milestones
Ændringer i disse gener forårsager sjældne tilstande, hvor Loss of developmental milestones ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Altid | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 3 tilstande |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Altid | I 2 tilstande |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Altid | I 1 tilstand |
| ATP6V0CATPase H+ transporting V0 subunit c | Altid | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Altid | I 2 tilstande |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altid | I 1 tilstand |
| CAMLGcalcium modulating ligand | Altid | I 1 tilstand |
| CASP2caspase 2 | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Altid | I 2 tilstande |
| CLN8CLN8 transmembrane ER and ERGIC protein | Altid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Altid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altid | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Altid | I 2 tilstande |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Altid | I 3 tilstande |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Altid | I 1 tilstand |
| HEPHL1hephaestin like 1 | Altid | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Altid | I 2 tilstande |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altid | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altid | I 1 tilstand |
| HTThuntingtin | Altid | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Altid | I 2 tilstande |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| KCTD7potassium channel tetramerization domain containing 7 | Altid | I 2 tilstande |
| LIPT1lipoyltransferase 1 | Altid | I 1 tilstand |
| LNPKlunapark, ER junction formation factor | Altid | I 1 tilstand |
Vis 407 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Altid | I 4 tilstande |
| MFFmitochondrial fission factor | Altid | I 2 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Altid | I 2 tilstande |
| NALCNsodium leak channel, non-selective | Altid | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Altid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 4 tilstande |
| PLCB1phospholipase C beta 1 | Altid | I 3 tilstande |
| PMPCBpeptidase, mitochondrial processing subunit beta | Altid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Altid | I 2 tilstande |
| POLR3BRNA polymerase III subunit B | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 5 tilstande |
| PTCD3pentatricopeptide repeat domain 3 | Altid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 2 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altid | I 2 tilstande |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Altid | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altid | I 2 tilstande |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 2 tilstande |
| SERAC1serine active site containing 1 | Altid | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Altid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Altid | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Altid | I 3 tilstande |
| SMPD1sphingomyelin phosphodiesterase 1 | Altid | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Altid | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Altid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Altid | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Altid | I 4 tilstande |
| TRAPPC12trafficking protein particle complex subunit 12 | Altid | I 2 tilstande |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Altid | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Altid | I 1 tilstand |
| UBTFupstream binding transcription factor | Altid | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Altid | I 1 tilstand |
| ARXaristaless related homeobox | Meget ofte (80–99 %) | I 2 tilstande |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Meget ofte (80–99 %) | I 2 tilstande |
| CD4CD4 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Meget ofte (80–99 %) | I 4 tilstande |
| CNPY3canopy FGF signaling regulator 3 | Meget ofte (80–99 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Meget ofte (80–99 %) | I 2 tilstande |
| DDB2damage specific DNA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Meget ofte (80–99 %) | I 3 tilstande |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Meget ofte (80–99 %) | I 2 tilstande |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Meget ofte (80–99 %) | I 3 tilstande |
| GLB1galactosidase beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Meget ofte (80–99 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Meget ofte (80–99 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Meget ofte (80–99 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Meget ofte (80–99 %) | I 2 tilstande |
| IRF4interferon regulatory factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NAGAalpha-N-acetylgalactosaminidase | Meget ofte (80–99 %) | I 2 tilstande |
| NAXDNAD(P)HX dehydratase | Meget ofte (80–99 %) | I 2 tilstande |
| NTNG1netrin G1 | Meget ofte (80–99 %) | I 1 tilstand |
| NTNG2netrin G2 | Meget ofte (80–99 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PCDH19protocadherin 19 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Meget ofte (80–99 %) | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Meget ofte (80–99 %) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 6 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Meget ofte (80–99 %) | I 5 tilstande |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Meget ofte (80–99 %) | I 2 tilstande |
| SIK1salt inducible kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC12A5solute carrier family 12 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC13A5solute carrier family 13 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC25A22solute carrier family 25 member 22 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC29A3solute carrier family 29 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Meget ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Meget ofte (80–99 %) | I 1 tilstand |
| WDR45WD repeat domain 45 | Meget ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 3 tilstande |
| ADPRSADP-ribosylserine hydrolase | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 3 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstande |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstande |
| CLTCclathrin heavy chain | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 2 tilstande |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 3 tilstande |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 2 tilstande |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 2 tilstande |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 2 tilstande |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 2 tilstande |
| FRRS1Lferric chelate reductase 1 like | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ofte (30–79 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstande |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 3 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 2 tilstande |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ofte (30–79 %) | I 2 tilstande |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 2 tilstande |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ofte (30–79 %) | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Ofte (30–79 %) | I 2 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Ofte (30–79 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 2 tilstande |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 2 tilstande |
| MED27mediator complex subunit 27 | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| NAXENAD(P)HX epimerase | Ofte (30–79 %) | I 2 tilstande |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ofte (30–79 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Ofte (30–79 %) | I 3 tilstande |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstande |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Ofte (30–79 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 2 tilstande |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 3 tilstande |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 3 tilstande |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| TBC1D2BTBC1 domain family member 2B | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 2 tilstande |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstande |
| TRAK1trafficking kinesin protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD40LGCD40 ligand | Nogle gange (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Nogle gange (5–29 %) | I 1 tilstand |
| CUBNcubilin | Nogle gange (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DMXL2Dmx like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Nogle gange (5–29 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| GLAgalactosidase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GRM7glutamate metabotropic receptor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Nogle gange (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NBEAneurobeachin | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Nogle gange (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nogle gange (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POC1APOC1 centriolar protein A | Nogle gange (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SEMA4Asemaphorin 4A | Nogle gange (5–29 %) | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Bsyntaxin 1B | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCEAL1transcription elongation factor A like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Nogle gange (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjældent (1–4%) | I 1 tilstand |
| DPYSdihydropyrimidinase | Sjældent (1–4%) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Sjældent (1–4%) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Sjældent (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sjældent (1–4%) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ikke registreret | I 1 tilstand |
| ASPAaspartoacylase | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Ikke registreret | I 1 tilstand |
| COASYCoenzyme A synthase | Ikke registreret | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registreret | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Ikke registreret | I 1 tilstand |
| FOLR1folate receptor alpha | Ikke registreret | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ikke registreret | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registreret | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Ikke registreret | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ikke registreret | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registreret | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registreret | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registreret | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Ikke registreret | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registreret | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registreret | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger